Do Not Dismiss Incidental Hyperkalemia in Childhood: Early Recognition of Pseudohypoaldosteronism Type II.

Pseudohypoaldosterism: demystification using network medicine and proposed diagnostic panels.

Tissue-specific expression and regulation of the mineralocorticoid receptor during development.

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report.

Current understanding of ENaC regulation by P2Y2/PLC/PI(4,5)P2 pathway.

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.

Secondary hyperaldosteronism associated with severe infantile atopic dermatitis: a case series.

Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.

Pseudohypoaldosteronism type II: The Relevance of A Challenging Diagnosis.

Long-Term Immune Alterations After Thymectomy in Early Childhood: A Case Series.

Repeated pseudohypoaldosteronism (PHA1) in pregnancy associated with fetal growth restriction: case report and review of the literature.

The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment.

Transient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.

The functional study of novel KLHL3 missense mutations associated with pseudohypoaldosteronism type II.

Cardiac arrest in a previously healthy infant caused by secondary pseudohypoaldosteronism: Case report and literature review.

Case Report: Functional investigation of the γENaC G532S mutation presenting as mild PHA-1B3.

Pseudo-Hypoaldosteronism Type 2 due to New Variants of KLHL3 Gene Diagnosed in an Adult Woman With Very High Sensitivity to Hydrochlorothiazide.

Sorting nexins associated with recycling complexes regulate epithelial sodium channel trafficking.

A case report of Graves' disease combined with pseudohypoaldosteronism type IID in a child.

Life-Threatening Hyponatremia, Hyperkalemia, and Shock in Infancy: Not Always Congenital Adrenal Hyperplasia.

Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis.

Prenatal Diagnosis of Autosomal Dominant Pseudohypoaldosteronism due to NR3C2 Gene Mutation: Immediate Postnatal Oral Saline Therapy Prevents the Clinical Manifestations Resulting from Impaired Salt Balance.

A case report on pseudohypoaldosteronism with a pathogenic mutation of CA12 causes autosomal recessive isolated hyperchlorhidrosis disorder.

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.

A Case of Secondary Pseudohypoaldosteronism in a Neonate not Due to Urinary Tract Issues.

Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.

Revelation of Gordon Syndrome: A Case of Persistent Hyperkalemia.

[Three cases of pseudohypoaldosteronism type Ⅱ].

Hypertension and hyperkalemia associated with Pro701Leu mutation in the NR3C2 gene: A case report.

Autosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management.

Case Report: Autoimmune hepatitis in a patient with pseudohypoaldosteronism type 1-insights into a rare co-occurrence.

Delayed Graft Function and Tacrolimus Overdosage: A Case Report.

Refractory Hyperkalemia With Type 4 Renal Tubular Acidosis Associated With Tubulointerstitial Nephritis and Renal Papillary Necrosis Following Intravenous Lipid Emulsion Therapy in a Cat.

Functional properties of the γ-ENaC-A635V mutation in a patient with severe hyponatremia.

Kidney involvement during the course of febrile urinary tract infection.

Neonatal pseudo-hypoaldosteronism type 1 with a novel NR3C2 gene variant.

The evolving concepts of KS-WNK1 effect on NCC activity.

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene.

Familial Hyperkalemic Hypertension.

Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.

Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.

Hyperkalaemic acidosis: blood pressure is the diagnostic clue.

Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.

Prevalence of and factors associated with Na + /K + imbalances in a population of children hospitalized with febrile urinary tract infection.

Persistent mild hypercalcaemia in an infant with pseudohypoaldosteronism and the diagnostic challenges faced.

Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.

Prevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.

Distal convoluted tubule-specific disruption of the COP9 signalosome but not its regulatory target cullin 3 causes tubular injury.

Eosinophilic cystitis-an obscure case of obstructive uropathy in infancy.

Transient secondary pseudo-hypoaldosteronism in infants with urinary tract infections: systematic literature review.

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.

Secondary pseudohypoaldosteronism: a 15-year experience and a literature review.

An unusual case of Pseudohypoaldosteronism coexisting with cystic fibrosis.

Hyponatremia in babies: a 11-year single-center study.

Pseudohypoaldosteronism and acquired renal aldosterone resistance with hyperkalemic type IV renal tubular acidosis in 2 cats.

Autosomal Dominant Pseudohypoaldosteronism Type 1 in a Newborn With Failure to Thrive.

Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.

A case of secondary pseudohypoaldosteronism that presented as poor weight gain.

NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.

The small molecule activator S3969 stimulates the epithelial sodium channel by interacting with a specific binding pocket in the channel's β-subunit.

Adult-onset transient pseudohypoaldosteronism secondary to obstructive nephropathy: a case report.

Pseudohypoaldosteronism Type II or Gordon Syndrome: A Rare Syndrome of Hyperkalemia and Hypertension With Normal Renal Function.

Cardiac arrest in a newborn: A case of pseudohypoaldosteronism.

Analysis of patients presenting with serum electrolyte imbalance in terms of the differential diagnosis of pseudohypoaldosteronism.

Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I.

Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature.

Clinical analysis of salt-wasting in infants due to genetic aetiology.

When the Going Gets Tough: A Case Report and Review of Calcinosis Cutis in an Infant with Pseudo-Hypoaldosteronism.

Hereditary causes of hypertension due to increased sodium transport.

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.

Dysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.

TRANSIENT PSEUDOHYPOALDOSTERONISM SECONDARY TO URINARY TRACT INFECTION IN A MALE INFANT WITH UNILATERAL HYDRONEPHROSIS DUE TO PRIMARY OBSTRUCTIVE MEGAURETER: A CASE REPORT.

Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.

Unanticipated domain requirements for Drosophila Wnk kinase in vivo.

Gordon's syndrome in pregnancy.

Association of Familial Hyperkalemia and Hypertension with Proximal Renal Tubular Acidosis and Epileptic Seizures.

Are CUL3 variants an underreported cause of congenital heart disease?

Role of epithelial sodium channel-related inflammation in human diseases.

[Neonatal systemic pseudohypoaldosteronism type I].

KLHL3-dependent WNK4 degradation affected by potassium through the neddylation and autophagy pathway.

Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemia.

Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.

Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.

The Epithelial Sodium Channel-An Underestimated Drug Target.

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.

[Regulation of kidney on potassium balance and its clinical significance].

Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.

Early-in-Life Serum Aldosterone Levels Could Predict Surgery in Patients with Obstructive Congenital Anomalies of the Kidney and Urinary Tract: A Pilot Study.

Cullin 3 and Blood Pressure Regulation: Insights From Familial Hyperkalemic Hypertension.

A Five-Month-Old Boy With Hypotonia, Electrolyte Derangements, and Failure to Thrive.

Control of sodium and potassium homeostasis by renal distal convoluted tubules.

Errate: Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism.

Successful Management of Systemic Pseudohypoaldosteronism Type 1 in an Infant.

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.

Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study.

A novel splice site CUL3 variant in a patient with neurodevelopmental delay.

NCC regulation by WNK signal cascade.

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.

Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism.

Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report.

Mild Clinical Phenotype in an 8-Year-Old Boy with Pseudohypoaldosteronism Type 2E: A Diagnostic Challenge.

WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway.

The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Transient pseudohypoaldosteronism in infancy mainly manifested as poor appetite and vomiting: Two case reports and review of the literature.

Neonatal Pseudohypoaldosteronism Type-1 in Japan.

Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney.

Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.

A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.

Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron.

Difficulties in the diagnosis and management of eight infants with secondary pseudohypoaldosteronism.

Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant.

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

A case of novel mutation of Cullin 3 gene in pseudohypoaldosteronism type II.

Generation and analysis of pseudohypoaldosteronism type II knock-in mice caused by a nonsense KLHL3 mutation in the Kelch domain.

Kelch-like protein 3 in human disease and therapy.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.

Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings.

UBR5 is a novel regulator of WNK1 stability.

Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis.

Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia.

Claudins in kidney health and disease.

Asymptomatic hyperkalemia as a form of presentation of pseudohypoaldosteronism.

Sequence and structural variations determining the recruitment of WNK kinases to the KLHL3 E3 ligase.

A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life.

Pseudo-hypoaldosteronism secondary to infantile urinary tract infections: role of ultrasound.

Combined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice.

Familial hyperkalemic hypertension: hyperkalemia not hypertension defines dominant KLHL3 disease and may permit earlier recognition and tailored therapy.

Diagnostic and management considerations in pseudohypoaldosteronism type 1b.

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23.

Unusual skin and eyelid changes in a neonate with pseudohypoaldosteronism.

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.

Case Report: Newborns With Pseudohypoaldosteronism Secondary to Excessive Gastrointestinal Losses Through High Output Stoma.

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.

[A Case of Pseudohypoaldosteronism Type Ⅱ (PHA2) Caused by a Novel Mutation of KLHL3].

Hormone resistance in children: what primary care physicians need to know.

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.

How Much Is Too Much? Exploring Pseudohyperaldosteronism in Glycyrrhizic Acid Toxicity From Chronic Licorice Root Consumption.

Monogenic forms of low-renin hypertension: clinical and molecular insights.

A late diagnosis of Pseudohypoaldosteronism type I in an infant with hypoplastic left heart syndrome presenting with failure to thrive.

A Case Report of Neonatal Vomiting due to Adrenal Hemorrhage, Abscess and Pseudohypoaldosteronism.

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Aldosterone signaling defect in young infants: single-center report and review.

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.

A rare case of persistent hyperkalaemia.

Tubulopathy meets Sherlock Holmes: biochemical fingerprinting of disorders of altered kidney tubular salt handling.

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.

Regulatory control of the Na-Cl co-transporter NCC and its therapeutic potential for hypertension.

Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.

Case Report: Severe Hyponatremia in Infants With Urinary Tract Infection.

Transient Pseudohypoaldosteronism Secondary to Group B Streptococcus Pyelonephritis.

A case report of pseudohypoaldosteronism type II with a homozygous KLHL3 variant accompanied by hyperthyroidism.

A rare cause of salt-wasting in early infancy: Transient pseudohypoaldosteronism.

Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone.

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.

Secondary Pseudohypoaldosteronism Associated With Mild Hydronephrosis in a Newborn.

Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.

Role of KLHL3 and dietary K+ in regulating KS-WNK1 expression.

WNK4 kinase: from structure to physiology.

Decreased KLHL3 expression is involved in the activation of WNK-OSR1/SPAK-NCC cascade in type 1 diabetic mice.

A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.

The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study.

Metabolic Acidosis, Hyperkalemia, and Renal Unresponsiveness to Aldosterone Syndrome: Response to Treatment with Low-Potassium Diet.

Three cases of pseudohypoaldosteronism following ileostomy in preterm infants.

Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.

A comparative study of structural and conformational properties of WNK kinase isoforms bound to an inhibitor: insights from molecular dynamic simulations.

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review.

Hyperkalemia in pseudohypoaldosteronism type 2 can be from mutated WNK4, but more often from impaired ubiquitination of normal WNK4.

Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.

WNK-SPAK/OSR1-NCC kinase signaling pathway as a novel target for the treatment of salt-sensitive hypertension.

An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2.

WNK1-OSR1/SPAK KINASE CASCADE IS IMPORTANT FOR ANGIOGENESIS.

Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.

Rare case of pseudohypoaldosteronism in a neonate secondary to congenital hydrometrocolpos.

[Severity of familial hyperkalemic hypertension caused by CUL-3 mutations: a story about kidneys and blood vessels].

Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B.

The WNK signaling pathway and salt-sensitive hypertension.

Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity.

Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.

Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism.

Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease.

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.

Prevalence, diagnosis, and management of secondary pseudohypoaldosteronism.

Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism.

Life threatening hyperkalemia treated with prolonged continuous insulin infusion.

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.

A novel SCNN1G mutation in a PHA I infant patient correlates with nephropathy.

The Case | Severe hypertension and hyperkalemia in a kidney transplant recipient.

Cullin-Ring ubiquitin ligases in kidney health and disease.

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.

Hyponatremia in children under 100 days old: incidence and etiologies.

An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Answers.

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.

Investigating specificity of the anti-hypertensive inhibitor WNK463 against With-No-Lysine kinase family isoforms via multiscale simulations.